Retrieving Y chromosomal haplogroup trees using GWAS data

Eur J Hum Genet. 2014 Aug;22(8):1046-50. doi: 10.1038/ejhg.2013.272. Epub 2013 Nov 27.

Abstract

Phylogenetically informative Y chromosomal single-nucleotide polymorphisms (Y-SNPs) integrated in DNA chips have not been sufficiently explored in most genome-wide association studies (GWAS). Herein, we introduce a pipeline to retrieve Y-SNP data. We introduce the software YTool (http://mitotool.org/ytool/) to handle conversion, filtering, and annotation of the data. Genome-wide SNP data from populations in Myanmar are used to construct a haplogroup tree for 117 Y chromosomes based on 369 high-confidence Y-SNPs. Parallel genotyping and published resequencing data of Y chromosomes confirm the validity of our pipeline. We apply this strategy to the CEU HapMap data set and construct a haplogroup tree with 107 Y-SNPs from 39 individuals. The retrieved Y-SNPs can discern the parental genetic structure of populations. Given the massive quantity of data from GWAS, this method facilitates future investigations of Y chromosome diversity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Y*
  • Computational Biology / methods
  • Genetics, Population
  • Genome-Wide Association Study*
  • Genotype
  • Haplotypes*
  • Humans
  • Internet
  • Male
  • Myanmar
  • Phylogeny*
  • Polymorphism, Single Nucleotide
  • Reproducibility of Results
  • Software